ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter)

gnomAD frequency: 0.00001  dbSNP: rs146538906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000023642 SCV000797798 pathogenic Ellis-van Creveld syndrome 2018-02-16 criteria provided, single submitter clinical testing
Invitae RCV001852025 SCV002164018 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30665). This premature translational stop signal has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 21815252, 26064711, 26818569, 29456477). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs146538906, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg885*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929).
OMIM RCV000023642 SCV000044933 pathogenic Ellis-van Creveld syndrome 2011-09-01 no assertion criteria provided literature only

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